rs121909511

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(C;C)	0	common in clinvar

Make rs121909511(C;T)

Make rs121909511(T;T)

Reference

GRCh38 38.1/141

Chromosome

17

Position

4900845

Gene	CHRNE, C17orf107

is a	snp
is	mentioned by
dbSNP	rs121909511
dbSNP (classic)	rs121909511
ClinGen	rs121909511
ebi	rs121909511
HLI	rs121909511
Exac	rs121909511
Gnomad	rs121909511
Varsome	rs121909511
LitVar	rs121909511
Map	rs121909511
PheGenI	rs121909511
Biobank	rs121909511
1000 genomes	rs121909511
hgdp	rs121909511
ensembl	rs121909511
geneview	rs121909511
scholar	rs121909511
google	rs121909511
pharmgkb	rs121909511
gwascentral	rs121909511
openSNP	rs121909511
23andMe	rs121909511
SNPshot	rs121909511
SNPdbe	rs121909511
MSV3d	rs121909511
GWAS Ctlg	rs121909511

Max Magnitude

0

OMIM	100725
Desc
Variant	0002
Related	also

ClinVar
Risk	rs121909511(T;T)
Alt	rs121909511(T;T)
Reference	Rs121909511(C;C)
Significance	Pathogenic
Disease	Myasthenic syndrome
Variation	info
Gene	C17orf107 CHRNE
CLNDBN	Myasthenic syndrome, congenital, 4a, slow-channel
Reversed	1
HGVS	NC_000017.10:g.4804140G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000020012.29,